Canonical Allele Identifier: CA467738511

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1564569554
• COSMIC: COSM4148872 ; COSM4148873
• MyVariant Identifiers: chr9:g.139393604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499152G>A , CM000671.2:g.136499152G>A	GRCh38
NC_000009.11:g.139393604G>A , CM000671.1:g.139393604G>A	GRCh37
NC_000009.10:g.138513425G>A	NCBI36
NG_007458.1:g.51635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6042C>T MANE Select	ENSP00000498587.1:p.Leu2014=
ENST00000679595.1:c.*1082C>T	ENSP00000506241.1:n.*1082C>T
ENST00000679969.1:n.2523C>T
ENST00000680003.1:n.2374C>T
ENST00000680133.1:c.5928C>T	ENSP00000505319.1:p.Leu1976=
ENST00000680218.1:c.5922C>T	ENSP00000505339.1:p.Leu1974=
ENST00000680668.1:c.5928C>T	ENSP00000506336.1:p.Leu1976=
ENST00000680778.1:c.3639C>T	ENSP00000506033.1:p.Leu1213=
ENST00000680924.1:c.*3442C>T	ENSP00000506031.1:n.*3442C>T
ENST00000681135.1:c.*3651C>T	ENSP00000506636.1:n.*3651C>T
ENST00000681298.1:n.4147C>T
ENST00000681454.1:c.*5278C>T	ENSP00000505763.1:n.*5278C>T
ENST00000277541.6:c.6042C>T	ENSP00000277541.6:p.Leu2014=
NM_017617.3:c.6042C>T	NP_060087.3:p.Leu2014=
XM_011518717.1:c.5343C>T	XP_011517019.1:p.Leu1781=
NM_017617.5:c.6042C>T MANE Select	NP_060087.3:p.Leu2014=
XM_011518717.2:c.5319C>T	XP_011517019.2:p.Leu1773=